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Ekshiian AIu, Livshits LA, Bychkova AM, Afanas’eva NA, Bariliak IR
A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine
Cytology and Genetics 1997, v 31, number 6, 75-81
The results of DNA analysis of deletion in exons 7 and 8 of SMN gene, and exon 5 of NAIP gene in 24 SMA-families from Ukraine are presented. Deletions of SMN exons 7 and 8, or 7 were found in 46 (97.9%) of 47 SMA-chromosomes. A homozygous deletion of NAIP exon 5 was demonstrated in 4 (19%) of 21 SMA-families. The authors have demonstrated that in 2 SMA patients with homozygous deletion SMN exon 7 only, the remaining SMN exon 8 was a part of a chimeric CBCD41/SMN gene.
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